ClinVar Miner

Submissions for variant NM_203486.3(DLL3):c.945_946del (p.Ala317fs)

gnomAD frequency: 0.00004  dbSNP: rs786200900
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Human Genetics, Hannover Medical School RCV000007231 SCV003935296 likely pathogenic Spondylocostal dysostosis 1, autosomal recessive 2023-06-28 criteria provided, single submitter clinical testing
Invitae RCV003555952 SCV004298381 pathogenic not provided 2023-11-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala317Argfs*17) in the DLL3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DLL3 are known to be pathogenic (PMID: 12746394). This variant is present in population databases (rs786200900, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with spondylocostal dysostosis (PMID: 10742114). ClinVar contains an entry for this variant (Variation ID: 6829). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000007231 SCV000027427 pathogenic Spondylocostal dysostosis 1, autosomal recessive 2000-04-01 no assertion criteria provided literature only

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